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Bicuspid Aortic Valve (BAV) is the most common congenital heart malformation in adults, but very little is known about the genetic causes or risk factors for adverse outcomes. Currently, it is estimated that most cases of aortic stenosis in patients less than 65 years old are caused by BAVs. BAV patients are also at high risk to develop aneurysms of the ascending aorta, which may lead to aortic dissections. Dr. Prakash and his colleagues plan to use individual genetic information to identify persons with BAV who are at high risk for complications and to customize therapies.
To be included in the study, patients must have a bicuspid or unicuspid aortic valve, documented by clinical history or imaging studies. If the aortic valve was replaced surgically, they may still be eligible. Participants will be asked to donate a single tube of blood and fill out a questionnaire. Patients will also be followed up by telephone or email about once a year to determine if they experience any medical complications related to Bicuspid Aortic Valve (BAV), such as aortic aneurysms, aortic dissections or valve disease. Patients may not be included if they are less than 18 years old at the time of recruitment or have a recognized genetic syndrome or genetic mutation such as Marfan or Ehlers-Danlos syndrome.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| BAV Cohort | Patients with bicuspid or unicuspid aortic valves, regardless of surgical status. |
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| Measure | Description | Time Frame |
|---|---|---|
| Thoracic aortic aneurysms and dissections | Development of new aneurysms and/or dissections of the thoracic aorta | 10 years |
| Aortic valve replacement surgery | 10 years |
| Measure | Description | Time Frame |
|---|---|---|
| Aortic enlargement | Dilation of thoracic aorta, new or progressive | 10 years |
| Measure | Description | Time Frame |
|---|---|---|
| Aortic valve degeneration | Increase in valve degeneration score by at least 1 unit | 10 years |
Inclusion Criteria:
Exclusion Criteria:
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Adults at least 18 years old with unicuspid or bicuspid aortic valves
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| Name | Affiliation | Role |
|---|---|---|
| Siddharth Prakash, MD, PhD | The University of Texas Health Science Center, Houston | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Texas Health Science Center Houston | Houston | Texas | 77030 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39658198 | Derived | DiGregorio H, Mansoorshahi S, Carlisle SG, Tovar Pensa C, Watts A, McNeely C, Sabate-Rotes A, Yetman A, Michelena HI, De Backer JFA, Mosquera LM, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Citro R, De Marco M, Tretter JT, McBride KL, Body SC, Milewicz DM, Prakash SK; EBAV Investigators. Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve. Heart. 2025 Feb 12;111(5):221-229. doi: 10.1136/heartjnl-2024-324669. |
| Label | URL |
|---|---|
| John Ritter Research Program in Aortic and Vascular Disease | View source |
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| ID | Term |
|---|---|
| D000082882 | Bicuspid Aortic Valve Disease |
| C000655292 | unicuspid aortic valve |
| ID | Term |
|---|---|
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
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Genomic DNA from whole blood Genomic DNA from saliva Aortic valve tissue preserved in RNALater
| D000082862 | Aortic Valve Disease |
| D006349 | Heart Valve Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |